Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases.

Autor: Cano R; Department of Dermatology, Hospital Alemán, Buenos Aires, Argentina.; Department of Pediatric Dermatology, Hospital Ramos Mejía, Buenos Aires, Argentina., Abad ME; Department of Dermatology, Hospital Alemán, Buenos Aires, Argentina.; Department of Pediatric Dermatology, Hospital Ramos Mejía, Buenos Aires, Argentina., Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Serafin E; Department of Genetics, Hospital Alemán, Buenos Aires, Argentina., Larralde M; Department of Dermatology, Hospital Alemán, Buenos Aires, Argentina.; Department of Pediatric Dermatology, Hospital Ramos Mejía, Buenos Aires, Argentina.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2023 Jul-Aug; Vol. 40 (4), pp. 691-694. Date of Electronic Publication: 2023 Jan 27.
DOI: 10.1111/pde.15248
Abstrakt: Happle-Tinschert syndrome is a rare genodermatosis caused by a postzygotic mutation in SMO gene. The most recognized clinical findings include segmentally arranged basaloid follicular hamartomas, nevoid hypertrichosis, linear atrophoderma, and hypopigmentation or hyperpigmentation following Blaschko lines associated with osseous, dental, and cerebral alterations. We report three additional cases, two of which lacked the pathognomonic basaloid follicular hamartomas, with genetic confirmation and detailed clinical characterization and describe new cutaneous features of this infrequent syndrome.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: